Furthermore, certain mitochondrial conditions like dihydrolipoamide dehydrogenase (DLD or E3) deficiency (also classified as primary‐generalized PDCD; Supplementary Table S5), which results in Leu elevation may be missed if Ala:Leu, Pro:Leu, or the combination ratios are used as screening tools. The gene discussed is DLD; the disease is pre-descemet corneal dystrophy.